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nsv2781826

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 109 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):121,984,561-121,984,561Question Mark
Overlapping variant regions from other studies: 109 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):121,984,564-121,984,564Question Mark
Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):52,374,137-52,374,137Question Mark
Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view    
Remapped(Score: Perfect):52,374,139-52,374,139Question Mark
Overlapping variant regions from other studies: 109 SVs from 23 studies. See in: genome view    
Submitted genomic121,624,615-121,624,615Question Mark
Overlapping variant regions from other studies: 109 SVs from 23 studies. See in: genome view    
Submitted genomic121,624,618-121,624,618Question Mark
Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view    
Submitted genomic52,441,833-52,441,833Question Mark
Overlapping variant regions from other studies: 104 SVs from 24 studies. See in: genome view    
Submitted genomic52,441,835-52,441,835Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781826RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7121,984,561121,984,561+
nsv2781826RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7121,984,564121,984,564-
nsv2781826RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr752,374,13752,374,137+
nsv2781826RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr752,374,13952,374,139-
nsv2781826Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7121,624,615121,624,615+
nsv2781826Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7121,624,618121,624,618-
nsv2781826Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr752,441,83352,441,833+
nsv2781826Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr752,441,83552,441,835-

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13660119inversionDGAP240SequencingSplit read and paired-end mappingSCV000320846nssv13660120
nssv13660120inversionDGAP240SequencingSplit read and paired-end mappingSCV000320846nssv13660119

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv13660119RemappedPerfectNC_000007.14:g.523
74137inv1056NC_000
007.14:g.121984564
inv1056		GRCh38.p12First PassNC_000007.14Chr752,374,13752,374,137
nssv13660120RemappedPerfectNC_000007.14:g.523
74139inv1048NC_000
007.14:g.121984561
inv1048		GRCh38.p12First PassNC_000007.14Chr752,374,13952,374,139
nssv13660120RemappedPerfectNC_000007.14:g.523
74139inv1048NC_000
007.14:g.121984561
inv1048		GRCh38.p12First PassNC_000007.14Chr7121,984,561121,984,561
nssv13660119RemappedPerfectNC_000007.14:g.523
74137inv1056NC_000
007.14:g.121984564
inv1056		GRCh38.p12First PassNC_000007.14Chr7121,984,564121,984,564
nssv13660119Submitted genomic[NC_000007.13:g.52
441833inv1056];[NC
_000007.13:g.12162
4618inv1056]		GRCh37 (hg19)NC_000007.13Chr752,441,83352,441,833
nssv13660120Submitted genomic[NC_000007.13:g.52
441835inv1048];[NC
_000007.13:g.12162
4615inv1048]		GRCh37 (hg19)NC_000007.13Chr752,441,83552,441,835
nssv13660120Submitted genomic[NC_000007.13:g.52
441835inv1048];[NC
_000007.13:g.12162
4615inv1048]		GRCh37 (hg19)NC_000007.13Chr7121,624,615121,624,615
nssv13660119Submitted genomic[NC_000007.13:g.52
441833inv1056];[NC
_000007.13:g.12162
4618inv1056]		GRCh37 (hg19)NC_000007.13Chr7121,624,618121,624,618

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13660119DGAP240GRCh37: [NC_000007.13:g.52441833inv1056];[NC_000007.13:g.121624618inv1056]inversionSCV000320846Malenssv13660120
nssv13660120DGAP240GRCh37: [NC_000007.13:g.52441835inv1048];[NC_000007.13:g.121624615inv1048]inversionSCV000320846Malenssv13660119

No genotype data were submitted for this variant

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